A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241184



Internal ID22045794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70395155..70395155hg38UCSC Ensembl
chr12:70788935..70788935hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844106
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241184
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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